{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA117584",
  "communityStandardTitle": [
    "NM_005708.5(GPC6):c.700C>T (p.Arg234Ter)"
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  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20591[alleleid]",
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        "preferredName": "NM_005708.5(GPC6):c.700C>T (p.Arg234Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5552",
        "RCV": [
          "RCV000005891"
        ],
        "variationId": 5552
      }
    ],
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      {
        "@id": "http://exac.broadinstitute.org/variant/13-94482787-C-T",
        "id": "13-94482787-C-T",
        "variant": "13:94482787 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.94482787C>T?assembly=hg19",
        "id": "chr13:g.94482787C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.93830534C>T?assembly=hg38",
        "id": "chr13:g.93830534C>T"
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    ],
    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908440",
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        "@id": "http://gnomad.broadinstitute.org/variant/13-94482787-C-T?dataset=gnomad_r2_1",
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      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-93830534-C-T?dataset=gnomad_r4",
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        "variant": "13:93830534 C / T"
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    ]
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "13",
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      "referenceSequence": "http://reg.genome.network/refseq/RS271435"
    },
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      "@id": "http://reg.genome.network/allele/PA117585",
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      "referenceSequence": "http://reg.genome.network/refseq/RS030788"
    },
    {
      "coordinates": [
        {
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          "end": 380,
          "endIntronDirection": "+",
          "endIntronOffset": 282,
          "referenceAllele": "G",
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          "startIntronOffset": 281
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      "referenceSequence": "http://reg.genome.network/refseq/RS051746"
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      "referenceSequence": "http://reg.genome.network/refseq/RS088208"
    },
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      "@id": "http://reg.genome.network/allele/PA117585",
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525338"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS545965"
    },
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS571806"
    },
    {
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        {
          "allele": "T",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571807"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 535,
          "referenceAllele": "C",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004454",
      "geneNCBI_id": 10082,
      "geneSymbol": "GPC6",
      "hgvs": [
        "XM_017020301.1:c.334C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875790.1:p.Arg112Ter",
        "hgvsWellDefined": "XP_016875790.1:p.Arg112_Arg433delinsValSerLysValSerProThrProGlyCysIleArgAlaLeuMetLysMetLeuTyrCysProTyrCysArgGlyLeuProThrValArgProCysAsnAsnTyrCysLeuAsnValMetLysGlyCysLeuAlaAsnGlnAlaAspLeuAspThrGluTrpAsnLeuPheIleAspAlaMetLeuLeuValAlaGluArgLeuGluGlyProPheAsnIleGluSerValMetAspProIleAspValLysIleSerGluAlaIleMetAsnMetGlnGluAsnSerMetGlnValSerAlaLysValPheGlnGlyCysGlyGlnProLysProAlaProAlaLeuArgSerAlaArgSerAlaProGluAsnPheAsnThrArgPheArgProTyrAsnProGluGluArgProThrThrAlaAlaGlyThrSerLeuAspArgLeuValThrAspIleLysGluLysLeuLysLeuSerLysLysValTrpSerAlaLeuProTyrThrIleCysLysAspGluSerValThrAlaGlyThrSerAsnGluGluGluCysTrpAsnGlyHisSerLysAlaArgTyrLeuProGluIleMetAsnAspGlyLeuThrAsnGlnIleAsnAsnProGluValAspValAspIleThrArgProAspThrPheIleArgGlnGlnIleMetAlaLeuArgValMetThrAsnLysLeuLysAsnAlaTyrAsnGlyAsnAspValAsnPheGlnAspThrSerAspGluSerSerGlySerGlySerGlySerGlyCysMetAspAspValCysProThrGluPheGluPheValThrThrGluAlaProAlaValAspProAspArgArgGluValAspSerSerAlaAlaGlnArgGlyHisSerLeuLeuSerTrpSerLeuThrCysIleValLeuAlaLeuGlnArgLeuCysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571809"
    },
    {
      "@id": "http://reg.genome.network/allele/PA117585",
      "coordinates": [
        {
          "allele": "T",
          "end": 1350,
          "referenceAllele": "C",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004454",
      "geneNCBI_id": 10082,
      "geneSymbol": "GPC6",
      "hgvs": [
        "NM_005708.5:c.700C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005699.1:p.Arg234Ter",
        "hgvsWellDefined": "NP_005699.1:p.Arg234_Arg555delinsValSerLysValSerProThrProGlyCysIleArgAlaLeuMetLysMetLeuTyrCysProTyrCysArgGlyLeuProThrValArgProCysAsnAsnTyrCysLeuAsnValMetLysGlyCysLeuAlaAsnGlnAlaAspLeuAspThrGluTrpAsnLeuPheIleAspAlaMetLeuLeuValAlaGluArgLeuGluGlyProPheAsnIleGluSerValMetAspProIleAspValLysIleSerGluAlaIleMetAsnMetGlnGluAsnSerMetGlnValSerAlaLysValPheGlnGlyCysGlyGlnProLysProAlaProAlaLeuArgSerAlaArgSerAlaProGluAsnPheAsnThrArgPheArgProTyrAsnProGluGluArgProThrThrAlaAlaGlyThrSerLeuAspArgLeuValThrAspIleLysGluLysLeuLysLeuSerLysLysValTrpSerAlaLeuProTyrThrIleCysLysAspGluSerValThrAlaGlyThrSerAsnGluGluGluCysTrpAsnGlyHisSerLysAlaArgTyrLeuProGluIleMetAsnAspGlyLeuThrAsnGlnIleAsnAsnProGluValAspValAspIleThrArgProAspThrPheIleArgGlnGlnIleMetAlaLeuArgValMetThrAsnLysLeuLysAsnAlaTyrAsnGlyAsnAspValAsnPheGlnAspThrSerAspGluSerSerGlySerGlySerGlySerGlyCysMetAspAspValCysProThrGluPheGluPheValThrThrGluAlaProAlaValAspProAspArgArgGluValAspSerSerAlaAlaGlnArgGlyHisSerLeuLeuSerTrpSerLeuThrCysIleValLeuAlaLeuGlnArgLeuCysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667103",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377047.9:c.700C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005708.5:c.700C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366246.3:p.Arg234Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005699.1:p.Arg234Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}